Hemophagocytic Lymphohistiocytosis (HLH) Due to Fulminant Salmonella Sepsis in the Setting of IL12Rβ1 (Interleukin 12 Receptor Beta 1) Deficiency

por Alabbas, Ali, Alasmari, Badriah G, Saeed, Muhammad, Al-Tala, Saeed M, Abualama, Ayman E
Publicado 2023

Congenital Factor X-Riyadh (Stuart-Prower) Deficiency With Isolated Prothrombin Time Prolongation: A Case Report

por Alasmari, Badriah G, Tahaelbashir, Salma E, Alomari, Mohammed, Hommadi, Ashwaq M, Baothman, Abdullah, Al-tala, Saeed M
Publicado 2023

Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy

por Rius, Rocio, Bennett, Neal K., Bhattacharya, Kaustuv, Riley, Lisa G., Yüksel, Zafer, Formosa, Luke E., Compton, Alison G., Dale, Russell C., Cowley, Mark J., Gayevskiy, Velimir, Al Tala, Saeed M., Almehery, Abdulrahman A., Ryan, Michael T., Thorburn, David R., Nakamura, Ken, Christodoulou, John
Publicado 2022

Autozygome and high throughput confirmation of disease genes candidacy

por Maddirevula, Sateesh, Alzahrani, Fatema, Al-Owain, Mohammed, Al Muhaizea, Mohammad A., Kayyali, Husam R., AlHashem, Amal, Rahbeeni, Zuhair, Al-Otaibi, Maha, Alzaidan, Hamad I., Balobaid, Ameera, El Khashab, Heba Y., Bubshait, Dalal K., Faden, Maha, Yamani, Suad Al, Dabbagh, Omar, Al-Mureikhi, Mariam, Jasser, Abdulla Al, Alsaif, Hessa S., Alluhaydan, Iram, Seidahmed, Mohammed Zain, Alabbasi, Bashair Hamza, Almogarri, Ibrahim, Kurdi, Wesam, Akleh, Hana, Qari, Alya, Al Tala, Saeed M., Alhomaidi, Suzan, Kentab, Amal Y., Salih, Mustafa A., Chedrawi, Aziza, Alameer, Seham, Tabarki, Brahim, Shamseldin, Hanan E., Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous, Samira, Menasria, Goljan, Ewa, Abouelhoda, Mohamed, Meyer, Brian F., Hashem, Mais, Shaheen, Ranad, AlShahwan, Saad, Alfadhel, Majid, Ben-Omran, Tawfeg, Al-Qattan, Mohammad M., Monies, Dorota, Alkuraya, Fowzan S.
Publicado 2018